5. 10. 2020 |

Four years ago, scientists from the Loschmidt Laboratories of the Faculty of Science of Masaryk University and the International Clinical Research Center of St. Anne's University Hospital Brno (FNUSA-ICRC) published an article that dealt with the unique PredictSNP2 platform.

The text, entitled "PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions," was published in PLOS Computational Biology, which now ranks it among the top ten percent of articles in its history. "This is a significant award for the entire bioinformatics team that developed this platform for the general scientific community and physicians," said prof. Jiří Damborský, head of Loschmidt laboratories. "The popularity of the tool is evidenced by more than twenty-five thousand unique approaches and thirty-six thousand analyzes performed."

PredictSNP2 is freely available at this web address: http://loschmidt.chemi.muni.cz/predictsnp2 and is used mainly for personalized diagnosis, prognosis and treatment of hereditary diseases. The human population shows approximately 99.9% genetic similarity. Variations in the rest of the genome determine our identity as well as predispositions to different types of genetic diseases. To precisely define these phenotypically causal variants, several computational methods have been described, which are, however, very difficult for the user to grasp. Therefore, the PredictSNP2 platform was created, which - simply put - combines the advantages of the five most used prediction tools and the output is a consensus score in a user-friendly format adapted to the specific properties of different categories of variants. To enable a comprehensive evaluation of variants, the forecasts are supplemented by annotations from eight databases.

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